| | | Single nucleotide variant (intron variant) | RYR1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | LOC126862902, RYR1 (S2776F) | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (synonymous variant) | King Denborough syndrome +7 more | |
| | LOC126862902, RYR1 (I2781fs) | Deletion (frameshift variant) | Congenital multicore myopathy with external ophthalmoplegia +6 more | GConflicting classifications of pathogenicity |
| | LOC126862902, RYR1 (I2781T) | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +6 more | GConflicting classifications of pathogenicity |
| | LOC126862902, RYR1 (E2783Q) | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +1 more | |
| | LOC126862902, RYR1 (E2783V) | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +1 more | |
| | LOC126862902, RYR1 (T2787S) | Single nucleotide variant (missense variant) | Malignant hyperthermia of anesthesia | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital multicore myopathy with external ophthalmoplegia +6 more | |
| | | Single nucleotide variant (intron variant) | King Denborough syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | LOC126862902, RYR1 (I2817T) | Single nucleotide variant (missense variant) | RYR1-related disorder +6 more | |
| | LOC126862902, RYR1 (W2821*) | Single nucleotide variant (nonsense) | RYR1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Central core myopathy +4 more | |
| | | Single nucleotide variant (intron variant) | King Denborough syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Malignant hyperthermia, susceptibility to, 1 +7 more | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +6 more | |